Jolie disclosure puts focus on genetic testing for breast cancer

May 15, 2013

McGivern

Breast cancer Q&A

Actress Angela Jolie revealed she had a double mastectomy after she learned that she carries a mutated version of the gene BRCA1 and had a very high risk of breast cancer. She explained her decision in a New York Times article. Here are some questions her story may raise for other women. Q: What is the BRCA1 gene? A: BRCA1 (pronounced brak-uh) stands for “breast cancer one.” It was the first mutated gene that scientists discovered among families whose histories revealed many cases of breast cancer, including cancers at early ages and in both breasts. Ovarian cancers also are common in such families, according to the Stanford Medicine Cancer Institute. A second such gene is known as BRCA2. Q: How common are these gene mutations? A: Rates vary among racial and ethnic groups and according to the specific mutations. For example, in one study 2.3 percent of Ashkenazi Jews carried one of three BRCA1 and BRCA2 mutations, a rate that was five times higher than that found in the general population, according to the National Cancer Institute. Q: How high is the cancer risk in women who carry the mutations? A: Women with the BRCA1 or BRCA2 mutations have an average breast cancer risk of 60 percent, according to the NCI. Men with the mutations also have higher breast cancer risks than other men do. But personal risk can vary, based on family history and other factors. Jolie, whose mother died of ovarian cancer at age 56, says her personal risk was estimated at 87 percent. Q: Should all women be tested for these mutations? A: No. As Jolie notes, the tests can be expensive. The results also can have immense psychological and medical fallout and raise issues about privacy and discrimination. Though there are no clear-cut rules on who should be tested, it makes most sense to test people who have relatives who have had cancer and tested positive or those whose family histories suggest a very high risk, NCI says. For example, that might include women with two first-degree relatives — mothers, sisters daughters — who have had breast cancer, especially if at least one was diagnosed before age 50. Q: Does the surgery Jolie had eliminate the risk of breast cancer? A: Some risk always remains. But in women who are at moderate to high risk, a double mastectomy reduces the risk by about 90 percent, NCI says. — Source: USA TODAY

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Amanda Garrity had second thoughts about undergoing genetic testing for breast cancer genes in her early 20s.

“I thought being tested would put a cap on my life,” the Reedsville woman said. “I thought it would only make me paranoid waiting for breast cancer to strike.”

But there was good reason for Garrity to be tested. Her great-great-grandmother and great-grandmother both died from breast and ovarian cancer. Garrity’s mother and four of her five sisters all tested positive for BRCA2, one of two breast cancer genes (BRCA is the other). Her grandma was diagnosed with breast cancer at 66. Then, a cousin was diagnosed at the age of 27.

“Seeing (my cousin) struggle really motivated me to take responsibility for my health,” Garrity said. “I gathered up the courage and got tested at the age of 21.”

She tested positive for BRCA2. An MRI in November indicated that it wasn’t a matter of if Garrity would get cancer, but when.

“I wanted to take the initiative. I didn’t want it to weigh me down, and I didn’t want to wait for it,” said Garrity who had a preventative double mastectomy in February, four days after her 24th birthday.

Like Garrity, actress Angelina Jolie, one of the world’s most glamorous women, had an operation that once was terribly disfiguring — removal of both breasts. But new approaches are dramatically changing breast surgeries, whether to treat cancer or to prevent it as Angelina Jolie just chose to do. As Jolie said, “the results can be beautiful.”

Jolie revealed on Tuesday that she had a double mastectomy and reconstruction with implants because she carries a gene mutation that puts her at high risk of developing breast cancer.

Taking responsibility

Garrity said going ahead with the genetic testing and subsequent surgery were the most empowering decisions she’s ever made.

“I took responsibility and control of my body,” she said in the wake of Jolie’s disclosure. “Even at the age of 24 I wanted that control. Hopefully, I have a long and fruitful life ahead of me, and I didn’t want anything to derail my journey of what I wanted to accomplish.”

“I think there are a lot of women that really struggle with the decision, and it is obviously a very difficult decision,” McGivern said. “I think this awareness and advocacy is a great thing.”

For about a year, Amber Taylor’s aunt urged her to get tested for the BRCA gene because she had tested positive. The then-29-year-old Oshkosh woman met with McGivern, who told her she had a 50-50 chance of having the mutation.

About three weeks after undergoing a cheek swab, Taylor got a call from McGivern.

“(She said) ‘This is one of those 50-50s where you’re on the wrong side,’ Taylor recalled. “And I said, ‘Not really. I would rather know than not have known. This is actually kind of a good thing. Now I can have a mammogram right away before I’m 30, and I can have advanced studies of my lady organs.’”

In March 2012, Taylor, who had tumors in her left breast and cervical cancer, had a bilateral mastectomy and complete hysterectomy. Her 25-year-old sister is being tested on Thursday.

Now 31 and the mother of two boys, ages 11 and 13, Taylor is glad she had the procedures done.

“I am the biggest advocate,” she said. “I believe that having the information is better than not knowing. ... I thank (my aunt) and tell her she is my life-saver every single day. I am definitely a success story.”

Garrity, who got engaged in December, wants the opportunity to have children. With the BRCA2 gene her breast cancer risk was 87 percent and ovarian cancer is at 40 percent. A hysterectomy may be in her future.

“It’s definitely in the cards, but we want to take one thing at a time,” she said.

Shaking the family tree

The bread-and-butter of genetic counseling, said Affinity genetic counselor Thea Johnson, is the family history.

“We take a three or four generation family tree and ask about grandparents, aunts and uncles on both sides, parents, cousins, siblings, nieces, nephews and children,” she said. “And we map that all out and ask about the cancer family history.”

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Genetic counselors, like McGivern and Johnson, are trained to know whether someone falls into a high-risk category.

“Red flags would be do you have any early-onset breast cancer either personally or in your family?” Johnson said. “Early-onset would be generally 50 years old or less. Triple-negative breast cancer is a red flag. Do you yourself or do you have a close relative with bi-lateral or two primary breast cancers? If the breast cancer is at an older age in life, then we look at how many relatives have had breast cancer.”

In addition, counselors look to see if ovarian cancer is a factor.

“We really take a good, close look,” Johnson said. “But if you have one relative that’s been diagnosed with breast cancer over the age of 60, that’s normal because one in eight women will develop breast cancer in their lifetime.”

Genetic counseling and testing for BRCA1 and BRCA2, which have become the standard of care, are part of the Affordable Health Care Act.

“We are moving into an era where prevention is key,” Johnson said. “It’s wonderful now that the affordable care act is lumping that genetic counseling and BRCA1 and BRCA2 testing (when it’s medically indicated) as a part of that.”

Women have more options

Breast cancer is the most common cancer in women around the world. In the U.S., about 230,000 new cases are diagnosed each year.

Most can be treated by just having the lump removed, but that requires radiation for weeks afterward to kill any stray cancer cells in the breast, plus frequent mammograms to watch for a recurrence.

For women who already have the disease, the choice used to be whether to have the lump or the whole breast removed. Now there are more options that allow faster treatment, smaller scars, fewer long-term side effects and better cosmetic results. It has led to a new specialty — “oncoplastic” surgery — combining oncology, which focuses on cancer treatment, and plastic surgery to restore appearance.

Many women don’t want the worry or the radiation and choose mastectomy even though they could have less drastic surgery. Mastectomy rates have been rising. Federal law requires insurers to cover reconstruction for mastectomy patients, and many of the improvements in surgery are aimed at making it less disfiguring.

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“Cosmetics is very important” and can help a woman recover psychologically as well as physically, said Dr. Deanna Attai, a surgeon who is on the board of directors of the American Society of Breast Surgeons.

More women are getting chemotherapy or hormone therapy before surgery to shrink large tumors enough to let them have a breast-conserving operation instead of a mastectomy. Fewer lymph nodes are being removed to check for cancer’s spread, sparing women painful arm swelling for years afterward.

Newer ways to rebuild breasts have made mastectomy a more appealing option for some women. More of them are getting immediate reconstruction with an implant at the same time the cancer is removed rather than several operations that have been standard for many years. Skin and nipples increasingly are being preserved for more natural results. Jolie, for example, was able to keep her nipples and presumably her skin.

Some doctors are experimenting with operating on breast tumors through incisions in the armpit to avoid breast scars. There’s even a “Goldilocks” mastectomy for large-breasted women — not too much or too little removed and using excess skin to create a “just right” natural implant.

Finally, doctors are testing a way to avoid surgery altogether, destroying small tumors by freezing them with a probe through the skin.

“Breast surgery has become more minimalistic,” said Dr. Shawna Willey of Georgetown’s Lombardi Comprehensive Cancer Center.